Dyskeratosis Congenita Autosomal Recessive 3 C3151442
A rare genetic disorder affecting bone marrow function and causing skin changes. Leads to anemia, infections, and increased cancer risk. Management focuses on treating bone marrow failure and regular cancer screening.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Bone marrow or stem cell transplantation for treatment of bone marrow failure and aplastic anemia associated with the telomere biology disorder.
Cancer Surveillance Program
Regular screening for malignancies including head and neck cancers, anogenital cancers, and skin cancers with frequent examinations and imaging.
Additional treatment options
Bone Marrow and Hematologic Monitoring
Frequent blood count monitoring, bone marrow evaluation, and assessment for progression of bone marrow failure or myelodysplastic syndrome.
monitoringAndrogen Therapy
Androgen therapy such as oxymetholone may be used to support blood cell production in selected patients with bone marrow failure.
medicationSupportive Care for Dermatologic Manifestations
Management of skin pigmentation changes, nail dystrophy, and oral leukoplakia with dermatologic care and supportive treatments.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Dyskeratosis Congenita Autosomal Recessive 3 C3151442?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Dyskeratosis Congenita Autosomal Recessive 3 C3151442. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy